Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature

• Published in: Journal of inherited metabolic disease Vol. 43; no. 6; pp. 1321 - 1332
• Main Authors: Johnstone, Devon L., Nguyen, Thi Tuyet Mai, Zambonin, Jessica, Kernohan, Kristin D., St‐Denis, Anik, Baratang, Nissan V., Hartley, Taila, Geraghty, Michael T., Richer, Julie, Majewski, Jacek, Bareke, Eric, Guerin, Andrea, Pendziwiat, Manuela, Pena, Loren D. M., Braakman, Hilde M. H., Gripp, Karen W., Edmondson, Andrew C., He, Miao, Spillmann, Rebecca C., Eklund, Erik A., Bayat, Allan, McMillan, Hugh J., Boycott, Kym M., Campeau, Philippe M.
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.11.2020; Blackwell Publishing Ltd
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Abnormalities, Multiple - metabolism; Basic Medicine; Child; Child, Preschool; Children; Congenital defects; Convulsions & seizures; Encephalopathy; Epilepsy; epileptic encephalopathy; Exome Sequencing; Fatal Outcome; Female; Fibroblasts; Flow cytometry; Glycosylphosphatidylinositol; GPI; Humans; IGD; Infant; Infant, Newborn; Leukocytes (granulocytic); Literature reviews; Male; Medical and Health Sciences; Medicin och hälsovetenskap; Medicinska och farmaceutiska grundvetenskaper; Membrane Proteins - genetics; Midgut; Muscle Hypotonia - genetics; Muscle Hypotonia - pathology; Mutation, Missense; Neurosciences; Neurovetenskaper; Original; Phenotype; Phenotypes; Phosphatidylinositol; PIGQ; rare diseases; Seizures; Seizures - diagnosis; Seizures - genetics; Seizures - metabolism; Spasms, Infantile - genetics; Spasms, Infantile - metabolism; Spasms, Infantile - pathology; Transfection; rare diseases; GPI; exome sequencing; PIGQ; epileptic encephalopathy; IGD

We investigated seven children from six families to expand the phenotypic spectrum associated with an early infantile epileptic encephalopathy caused by biallelic pathogenic variants in the phosphatidylinositol glycan anchor biosynthesis class Q (PIGQ) gene. The affected children were all identified...